Lingual-Facial-Buccal Dyskinesia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lingual-Facial-Buccal Dyskinesia

MalaCards integrated aliases for Lingual-Facial-Buccal Dyskinesia:

Name: Lingual-Facial-Buccal Dyskinesia ¹² ¹⁵ ⁷³

Oro-Facial Dyskinesia ¹²

Orofacial Dyskinesia ²⁹

Dyskinesias ⁴⁴

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Idiopathic orofacial dystonia

External Ids:

Disease Ontology ¹² DOID:9854

ICD10 ³³ G24.4

ICD9CM ³⁵ 333.82

MeSH ⁴⁴ D020820

SNOMED-CT ⁶⁸ 49386006

UMLS ⁷³ C0152115

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Summaries for Lingual-Facial-Buccal Dyskinesia

MalaCards based summary : Lingual-Facial-Buccal Dyskinesia, also known as oro-facial dyskinesia, is related to choreatic disease and choreoacanthocytosis, and has symptoms including spasmodic torticollis An important gene associated with Lingual-Facial-Buccal Dyskinesia is CSTB (Cystatin B), and among its related pathways/superpathways are Peptide ligand-binding receptors and Monoamine GPCRs. Affiliated tissues include lung, heart and spinal cord, and related phenotypes are behavior/neurological and nervous system

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Related Diseases for Lingual-Facial-Buccal Dyskinesia

Diseases related to Lingual-Facial-Buccal Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 317)

#	Related Disease	Score	Top Affiliating Genes
1	choreatic disease	31.8	KEL VPS13A
2	choreoacanthocytosis	30.0	KEL VPS13A
3	mood disorder	29.8	DRD3 HTR2C
4	primary ciliary dyskinesia	12.5
5	ciliary dyskinesia, primary, 1	12.5
6	adcy5-related dyskinesia	12.4
7	biliary dyskinesia	12.4
8	familial paroxysmal nonkinesigenic dyskinesia	12.4
9	drug induced dyskinesia	12.4
10	dyskinesia, familial, with facial myokymia	12.4
11	episodic kinesigenic dyskinesia 1	12.4
12	ciliary dyskinesia, primary, 3	12.4
13	ciliary dyskinesia, primary, 9	12.4
14	ciliary dyskinesia, primary, 7	12.3
15	ciliary dyskinesia, primary, 5	12.3
16	ciliary dyskinesia, primary, 14	12.3
17	ciliary dyskinesia, primary, 15	12.3
18	ciliary dyskinesia, primary, 16	12.3
19	ciliary dyskinesia, primary, 17	12.3
20	ciliary dyskinesia, primary, 19	12.3
21	ciliary dyskinesia, primary, 20	12.3
22	ciliary dyskinesia, primary, 35	12.3
23	paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	12.3
24	ciliary dyskinesia, primary, 21	12.3
25	ciliary dyskinesia, primary, 25	12.3
26	ciliary dyskinesia, primary, 26	12.3
27	ciliary dyskinesia, primary, 27	12.3
28	ciliary dyskinesia, primary, 28	12.3
29	ciliary dyskinesia, primary, 2	12.3
30	ciliary dyskinesia, primary, 10	12.3
31	ciliary dyskinesia, primary, 11	12.3
32	ciliary dyskinesia, primary, 12	12.3
33	ciliary dyskinesia, primary, 13	12.3
34	ciliary dyskinesia, primary, 18	12.3
35	ciliary dyskinesia, primary, 23	12.3
36	ciliary dyskinesia, primary, 22	12.3
37	ciliary dyskinesia, primary, 29	12.3
38	ciliary dyskinesia, primary, 30	12.3
39	ciliary dyskinesia, primary, 33	12.3
40	ciliary dyskinesia, primary, 32	12.3
41	ciliary dyskinesia, primary, 34	12.3
42	ciliary dyskinesia, primary, 6	12.3
43	ciliary dyskinesia, primary, 24	12.3
44	ciliary dyskinesia, primary, 36, x-linked	12.3
45	ciliary dyskinesia, primary, 37	12.3
46	ciliary dyskinesia, primary, 38	12.3
47	paroxysmal nonkinesigenic dyskinesia 1	12.2
48	ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia	12.2
49	ciliary dyskinesia, primary, 4	12.2
50	ciliary dyskinesia, primary, 8	12.2

Graphical network of the top 20 diseases related to Lingual-Facial-Buccal Dyskinesia:

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Symptoms & Phenotypes for Lingual-Facial-Buccal Dyskinesia

UMLS symptoms related to Lingual-Facial-Buccal Dyskinesia:

spasmodic torticollis

MGI Mouse Phenotypes related to Lingual-Facial-Buccal Dyskinesia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.5	CSTB DRD3 GRIN3B HTR2C KEL SLC20A2
2	nervous system	MP:0003631	9.1	CSTB DRD3 HTR2C KEL SLC20A2 VPS13A

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Drugs & Therapeutics for Lingual-Facial-Buccal Dyskinesia

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Vitamin B6 and B12 in the Treatment of Movement Disorders Induced by Antipsychotics	Not yet recruiting	NCT03790345	Phase 2, Phase 3	Pyridoxine;Cobalamin;Placebo Oral Tablet
2	ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders	Recruiting	NCT02252380	Not Applicable
3	Effect of tDCS on Cognition, Symptoms in Chronic Schizophrenia Patients With Tardive Dyskinesia	Recruiting	NCT03497013	Not Applicable

Search NIH Clinical Center for Lingual-Facial-Buccal Dyskinesia

Cochrane evidence based reviews: dyskinesias

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Genetic Tests for Lingual-Facial-Buccal Dyskinesia

Genetic tests related to Lingual-Facial-Buccal Dyskinesia:

#	Genetic test	Affiliating Genes
1	Orofacial Dyskinesia ²⁹

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Anatomical Context for Lingual-Facial-Buccal Dyskinesia

MalaCards organs/tissues related to Lingual-Facial-Buccal Dyskinesia:

⁴¹

Lung, Heart, Spinal Cord, Globus Pallidus, Subthalamic Nucleus, Caudate Nucleus

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Publications for Lingual-Facial-Buccal Dyskinesia

Articles related to Lingual-Facial-Buccal Dyskinesia:

#	Title	Authors	Year
1	An Atypical Case of Anti-NMDA Receptor Encephalitis: Predominant Parkinsonism and Persisting Micrographia without Oro-facial Dyskinesia. ( 26234239 )	Kadoya M...Kaida K	2015
2	Interactions of the subthalamic nucleus and the subpallidal area in oro-facial dyskinesia: role of GABA and glutamate. ( 7675945 )	Spooren WP...Cools AR	1995
3	Subregions of the caudate nucleus and their in- and output channels in oro-facial dyskinesia: a behavioural and retrograde tracing study in the cat. ( 1707740 )	Spooren WP...Cools AR	1991
4	Dopamine D1 receptors in the sub-commissural part of the globus pallidus and their role in oro-facial dyskinesia in cats. ( 1839622 )	Spooren WP...Cools AR	1991
5	Oro-facial dyskinesia and the sub-commissural part of the globus pallidus in the cat: role of acetylcholine and its interaction with GABA. ( 2594903 )	Spooren WP...Cools AR	1989
6	The evaluation of an ultrasound detector (UD) in the measurement of oro-facial dyskinesia. ( 2885368 )	McClelland HA...Cox GA	1987
7	Oro-facial dyskinesia treatment with the neuroleptic pimozide (Orap). ( 6926912 )	Siegmund R...K?stner R	1982
8	Observations on the effect of levodopa on tardive lingual-facial-buccal dyskinesia. ( 5112211 )	Klawans H.L....Mckendall R.R.	1971

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Genes for Lingual-Facial-Buccal Dyskinesia

Genes related to Lingual-Facial-Buccal Dyskinesia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CSTB	Cystatin B	Protein Coding	400	Pathogenic ⁶
2	VPS13A	Vacuolar Protein Sorting 13 Homolog A	Protein Coding	16.25	DISEASES inferred ¹⁵
3	KEL	Kell Metallo-Endopeptidase (Kell Blood Group)	Protein Coding	15.85	DISEASES inferred ¹⁵
4	DRD3	Dopamine Receptor D3	Protein Coding	15.83	DISEASES inferred ¹⁵
5	SLC20A2	Solute Carrier Family 20 Member 2	Protein Coding	15.7	DISEASES inferred ¹⁵
6	HTR2C	5-Hydroxytryptamine Receptor 2C	Protein Coding	15.64	DISEASES inferred ¹⁵
7	GRIN3B	Glutamate Ionotropic Receptor NMDA Type Subunit 3B	Protein Coding	15.62	DISEASES inferred ¹⁵

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Variations for Lingual-Facial-Buccal Dyskinesia

ClinVar genetic disease variations for Lingual-Facial-Buccal Dyskinesia:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CSTB	NM_000100.3(CSTB): c.202C> T (p.Arg68Ter)	single nucleotide variant	Pathogenic	rs74315442	GRCh37	Chromosome 21, 45194178: 45194178
2	CSTB	NM_000100.3(CSTB): c.202C> T (p.Arg68Ter)	single nucleotide variant	Pathogenic	rs74315442	GRCh38	Chromosome 21, 43774297: 43774297

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Expression for Lingual-Facial-Buccal Dyskinesia

Search GEO for disease gene expression data for Lingual-Facial-Buccal Dyskinesia.

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Pathways for Lingual-Facial-Buccal Dyskinesia

Pathways related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peptide ligand-binding receptors ⁶⁶ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁶ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁶ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁶ G alpha (i) signalling events ⁶⁶ GPCR ligand binding ⁶⁶ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁷ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁶ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁶ Vasopressin-like receptors ⁶⁶	12.52	DRD3 GRIN3B HTR2C KEL
2	Monoamine GPCRs ¹ Show member pathways Adrenaline signalling through Alpha-2 adrenergic receptor ⁶⁶ Adrenoceptors ⁶⁶ Amine ligand-binding receptors ⁶⁶ Dopamine receptors ⁶⁶ Histamine receptors ⁶⁶ Muscarinic acetylcholine receptors ⁶⁶ Serotonin receptors ⁶⁶	10.68	DRD3 HTR2C

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GO Terms for Lingual-Facial-Buccal Dyskinesia

Biological processes related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	social behavior	GO:0035176	9.16	DRD3 VPS13A
2	cellular calcium ion homeostasis	GO:0006874	9.13	DRD3 HTR2C KEL
3	locomotory behavior	GO:0007626	8.8	DRD3 HTR2C VPS13A

Molecular functions related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	drug binding	GO:0008144	8.96	DRD3 HTR2C
2	neurotransmitter receptor activity	GO:0030594	8.62	GRIN3B HTR2C

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Sources for Lingual-Facial-Buccal Dyskinesia

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia